scholarly journals Sweat Analysis and Cystic Fibrosis : A Golden Handshake

JMS SKIMS ◽  
2015 ◽  
Vol 18 (2) ◽  
pp. 134-137
Author(s):  
Manzoor Raina ◽  
Mosin S Khan ◽  
Abdul H Raina ◽  
Mudassir Makhdoomi ◽  
Syed Mudassar
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Chloride Ion ◽  
Chloride Ions ◽  
Transport Systems ◽  
Cftr Gene ◽  
Sweat Glands ◽  
Multisystem Disease ◽  
Organ Systems

Cystic fibrosis (CF) is one of the most lethal, autosomal recessive, monogenic disorder that presents as a multisystem disease with significant morbidity and mortality in all parts of the world caused due to an abnormal transport of chloride ions across the apical membranes of epithelial cells. This autosomal recessive genetic disorder is caused by mutations of the CF transmembrane conductance regulator (CFTR) gene on chromosome 7 q31.2 1. The CFTR gene encodes the CFTR chloride-ion channel that is an essential component of epithelial ion transport systems in many organs, including the lungs, pancreas, intestinal tract, hepatobilliary tract, vas deferens and sweat glands. Cystic fibrosis (CF) affects exocrine gland function that involves multiple organ systems. Classical CF is characterized by progressive lung disease, pancreatic dysfunction, elevated sweat chloride  electrolyte, meconium ileus and male infertility and associated complications in untreated patients 2. JMS 2015; 18(2):134-137

CYSTIC FIBROSIS: ETIOLOGY, PATHOGENESIS, CLINICAL MANIFESTATIONS, RESULTS OF NEONATAL SCREENING AND GENETIC ASPECTS IN NORTH OSSETIA – ALANIA

2021 ◽  
Vol 100 (1) ◽  
pp. 222-228
Author(s):  
I.S. Tebieva ◽  
◽  
Z.K. Getoeva ◽  
N.V. Petrova ◽  
Yu.V. Gabisova ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Neonatal Screening ◽  
Clinical Manifestations ◽  
Population Characteristics ◽  
Cftr Gene ◽  
Sweat Glands ◽  
Multisystem Disease ◽  
Adequate Treatment ◽  
Economic Point ◽  
North Ossetia

Cystic fibrosis (CF) is a multisystem disease that affects the respiratory tract, gastrointestinal tract, liver, pancreas, salivary, sweat glands, reproductive system, caused by pathological variants of the CFTR gene located in the long arm of chromosome 7. Considering the fact that CF is the most common hereditary disease, transmitted in an autosomal recessive manner, threatening death and/or disability in case of late diagnosis, the study of population characteristics in different regions is important not only from an epidemiological, but also from a socio-economic point of view. High incidence of CF, the ability to identify the carrier of pathogenic CFTR gene variant, prenatal and preclinical diagnosis, adequate treatment and medical and social adaptation determine the need for organizing mass screening of newborns for this disease. Objective of this research is to evaluate the efficiency of neonatal screening for CF in RNO – Alania, to detect the frequency of its occurrence in the region, and to determine the molecular genetics features of CF in the population. A retrospective analysis of medical records of CF patients diagnosed before neonatal screening was carried out, as well as an analysis of the results of mass newborns screening for CF during 13 years from January 2007 to December 2019. Based on the analysis performed, it was found that the CF frequency in North Ossetia-Alania was 1:16369 live births, which is significantly lower than the average for Russia (1:9500).

Rhinosinusitis in the Pediatric Patient with Cystic Fibrosis

2014 ◽  
Vol 10 (3) ◽  
pp. 198-201 ◽  
Author(s):  
Christopher Fundakowski ◽  
Rosemary Ojo ◽  
Ramzi Younis
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Pediatric Patients ◽  
Surgical Intervention ◽  
Chronic Sinusitis ◽  
Genetic Disorder ◽  
Symptomatic Relief ◽  
Recurrence Rates ◽  
Polyp Recurrence ◽  
Sinonasal Polyposis

Cystic fibrosis (CF) is a common autosomal recessive genetic disorder where a deletion mutation and subsequent downstream alteration in transmembrane regulator proteins results in increased mucus viscosity. CF manifests clinically with chronic multisystem inflammation and recurrent infections. Nearly all children with CF have chronic sinusitis, and a large majority will have concurrent sinonasal polyposis. Chronic sinusitis and sinonasal polyposis in pediatric patients with CF can be managed conservatively initially, though most will fail medical management and require surgical intervention. Unfortunately, symptom resolution is marginal and polyp recurrence rates are high. Currently, no cure exists for CF and the mainstay of treatment is to provide symptomatic relief, and minimize disease morbidity.

scholarly journals Passively Addressable Ultra-Low Volume Sweat Chloride Sensor

Sensors ◽  
2019 ◽  
Vol 19 (20) ◽  
pp. 4590 ◽  
Author(s):  
Antra Ganguly ◽  
Shalini Prasad
Keyword(s):  
Dynamic Range ◽  
Electrochemical Impedance ◽  
Human Subjects ◽  
Chloride Ion ◽  
Chloride Ions ◽  
Sweat Glands ◽  
Linear Calibration ◽  
Sweat Chloride ◽  
Sedentary Population ◽  
Dose Responses

This work demonstrates a novel electrochemical biosensor for the detection of chloride ion levels in ultra-low volumes (1–3 microliters) of passively expressed human sweat. We present here a hydration monitor that the pediatric, geriatric, and other immune-compromised or physically inactive/sedentary population cohort can utilize, for whom the current methods of chloride quantification of active stimulation of sweat glands through iontophoresis or treadmill runs are unsuitable. In this work, non-faradaic electroanalysis using gold microelectrodes deposited on a flexible nanoporous substrate, for high nanoscale surface area to volume enhancement, was leveraged to operate in ultra-low sweat volumes of <3 µL eluted at natural rates. The specific chloride ionophore-based affinity of chloride ions resulted in the modulation of charge transfer within the electrical double layer at the electrode–sweat buffer interface, which was transduced using electrochemical impedance spectroscopy (EIS) and chronoamperometry (CA). Linear calibration dose responses with R-squared values of 0.9746 and 0.9403 for EIS and CA respectively were obtained for a dynamic range of 10–100 mM. The surface charge and the binding chemistry of the capture probe were studied using zeta potential studies and UV-Vis. The dynamic sweat chloride-tracking capability of the sensor was evaluated for a duration of 180 min. Studies were conducted to probe the efficacy of the developed sensor for passive ultra-low sweat chloride assessment on human subjects (n = 3).

scholarly journals Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Asal Gailan Abdul-Qadir ◽  
Bassam Musa Al-Musawi ◽  
Rabab Farhan Thejeal ◽  
Saad Abdul-Baqi Al-Omar
Keyword(s):  
Cystic Fibrosis ◽  
Molecular Analysis ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Regional Studies ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Multisystem Disease ◽  
Polymorphic Variants ◽  
Cystic Fibrosis Transmembrane

Abstract Background Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria. Results The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries. Conclusion Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.

scholarly journals David Christopher Gadsby. 26 March 1947—9 March 2019

2020 ◽  
Vol 68 ◽  
pp. 175-193
Author(s):  
Christopher Miller
Keyword(s):  
Cystic Fibrosis ◽  
New York ◽  
Ion Channel ◽  
Chloride Ion ◽  
Ionic Currents ◽  
Transport Systems ◽  
Membrane Biology ◽  
Membrane Pump ◽  
Do It Yourself ◽  
Membrane Transport Systems

Over nearly five decades, David Christopher Gadsby pioneered biophysical research that advanced our mechanistic understanding of ion-transporting proteins in biological membranes. His passion for hands-on do-it-yourself electrophysiology, his depth of analytical rigor, and his idiosyncratic scientific aesthetic expanded the edge of discovery in two areas: the electrical character of the Na + pump, and the molecular workings of ‘cystic fibrosis transmembrane regulator’ (CFTR), the chloride ion channel whose mutations cause cystic fibrosis. His approach was flavoured by an appreciation for common underlying features between these ostensibly distinct types of membrane-transport systems. While David's focus was first on the basic molecular biophysics of a problem, he was always attuned to implications of his discoveries for human health. Based in New York at The Rockefeller University throughout his independent scientific career, and at the Marine Biological Laboratory in Woods Hole, Massachusetts, as a squid-season research-scientist, he was proficient in wrestling with problems spanning a wide swath of membrane biology: from determinants of the cardiac electrical waveform, to microsecond-timescale ionic currents in squid axons, to details of structure–mechanism relations in membrane pump and ion-channel proteins. He wore his eminence lightly and never distanced himself from the laboratory, where he often performed experiments with his own hands right up to his retirement. His reserved scientific personality, which demanded equally from his colleagues and himself immaculate data, unclouded logic, and substantive pertinence to the issues at hand, contrasted with his palpable joy in a good experiment and in his sea-loving life outside the lab.

scholarly journals The spectrum of CFTR gene pathogenic variants in Northern Ossetia

2020 ◽  
pp. 57-59
Author(s):  
Н.В. Балинова ◽  
Н.В. Петрова ◽  
З.К. Гетоева ◽  
Н.Ю. Каширская ◽  
Т.А. Васильева ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Chloride Channel ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Cftr Gene ◽  
Gene Variants ◽  
Healthy Individuals ◽  
Pathogenic Variants ◽  
The Republic ◽  
North Ossetia

Муковисцидоз (МВ) - аутосомно-рецессивное заболевание, обусловленное нарушением функции эпителиального хлорного канала, кодируемого геном CFTR. Спектр и частота вариантов последовательности гена CFTR, как и частота МВ различаются в разных странах и этнических группах. Изучено распределение частот вариантов гена CFTR у больных МВ и у здоровых индивидов в Республике Северной Осетия-Алания. Спектр патогенных вариантов у осетинских больных МВ отличается своеобразием: наиболее частыми являются два варианта W1282X (50%) и F508del (20%), тогда как в общероссийской выборке пациентов самыми частыми являются варианты F508del (52,8%) и CFTRdele2,3 (6,2%), а вариант W1282X (1,90%) относительно редок. В выборке здоровых осетин частоты выявленных вариантов W1282X и F508del составляют 0,0032 и 0,0016, соответственно. Cystic fibrosis (CF) is an autosomal recessive disease caused by impaired function of the epithelial chloride channel encoded by the CFTR gene. The spectrum and frequency of CFTR gene variants, as well as the CF incidence, vary in different countries and ethnic groups. The frequency distribution of CFTR gene variants in CF patients and in healthy individuals in the Republic of North Ossetia-Alania was studied. The spectrum of pathogenic variants in Ossetian CF patients is specific: the most frequent are two variants W1282X (50%) and F508del (20%), while in the all-Russian CF patients the most frequent are variants - F508del (52.8%) and CFTRdele2.3 (6.2%), and the variant W1282X (1.90%) is relatively rare. In healthy Ossetians, the frequencies of detected variants W1282X and F508del are 0.0032 and 0.0016, respectively. The most common CFTR gene variants are W1282X and F508del, found both in CF patients and healthy individuals from the Ossetian population of the Republic of North Ossetia-Alania.

scholarly journals Hereditary Anhidrotic Ectodermal Dysplasia - A case report

2014 ◽  
Vol 5 (1) ◽  
pp. 51-53
Author(s):  
Mumtahina Setu ◽  
Syed Khairul Amin ◽  
Kuntol Roy ◽  
SM Nahid Morshed
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Autosomal Recessive Inheritance ◽  
Sweat Glands ◽  
Recessive Inheritance ◽  
Nail Dystrophy ◽  
Medical College ◽  
Palmoplantar Hyperkeratosis ◽  
Anhidrotic Ectodermal Dysplasia

Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Ectodermal dysplasia is a rare genetic disorder and X-linked recessive inheritance is most commonly seen. But we are reporting a rare case of autosomal recessive inheritance of Ectodermal dysplasia in here. DOI: http://dx.doi.org/10.3329/akmmcj.v5i1.18845 Anwer Khan Modern Medical College Journal Vol. 5, No. 1: January 2014, Pages 51-53

scholarly journals Cystic fibrosis and neonatal screening

2008 ◽  
Vol 24 (suppl 4) ◽  
pp. s475-s484 ◽  
Author(s):  
Roberta Rodrigues ◽  
Carmen S. Gabetta ◽  
Karla P. Pedro ◽  
Fabio Valdetaro ◽  
Maria I. M. Fernandes ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Middle Ages ◽  
Neonatal Screening ◽  
Autosomal Recessive ◽  
Chloride Ion ◽  
Hereditary Disease ◽  
Ion Secretion ◽  
Northern European ◽  
Control And Prevention ◽  
Cystic Fibrosis Screening

The clinical and diagnostic aspects of cystic fibrosis have been extensively reviewed, with an emphasis on neonatal screening. This systematic literature review involved a search for relevant contributions in the PubMed and SciELO databases. The first references to cystic fibrosis date to the Middle Ages. Cystic fibrosis is the most frequent autosomal recessive hereditary disease among Caucasians (1:2,000 to 3,500). More than 1,000 mutations lead to the disease, the most common being "F508, with 70% prevalence among Canadian, Northern European, and American Caucasians and 23 to 55% prevalence among Brazilians. The basic defect is in chloride ion secretion. Cystic fibrosis screening has long been controversial, and after almost three decades, there are few nationwide programs (most are regional or local). However, the U.S. Centers for Disease Control and Prevention (CDC) has concluded that screening for cystic fibrosis is justified. The lack of a specific screening test and the ethnic heterogeneity of the Brazilian population pose challenges for neonatal screening.

Exercise, physical activity, and cystic fibrosis

2017 ◽  
Author(s):  
Susi Kriemler ◽  
Thomas Radtke ◽  
Helge Hebestreit
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Exercise Capacity ◽  
Sweat Glands ◽  
Health Related Quality ◽  
Positive Effects ◽  
Organ Systems ◽  
Related Quality ◽  
Health Related

Cystic fibrosis (CF) is a genetic disease resulting in an impaired mucociliary clearance, chronic bacterial airway infection, and inflammation. The progressive destruction of the lungs is the main cause of morbidity and premature death. Diverse other organ systems such as heart, muscles, bones, gastro-intestinal tract, and sweat glands are often also affected and interfere with exercise capacity. Hence, exercise capacity is reduced as the disease progresses mainly due to reduced functioning of the muscles, heart, and/or lungs. Although there is still growing evidence of positive effects of exercise training in CF on exercise capacity, decline of pulmonary function, and health-related quality of life, the observed effects are encouraging and exercise should be implemented in all patient care. More research is needed to understand pathophysiological mechanisms of exercise limitations and to find optimal exercise modalities to slow down disease progression, predict long-term adherence, and improve health-related quality of life.

scholarly journals Quorum Sensing as Antivirulence Target in Cystic Fibrosis Pathogens

2019 ◽  
Vol 20 (8) ◽  
pp. 1838 ◽  
Author(s):  
Scoffone ◽  
Trespidi ◽  
Chiarelli ◽  
Barbieri ◽  
Buroni
Keyword(s):  
Cystic Fibrosis ◽  
Quorum Sensing ◽  
Burkholderia Cepacia ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Burkholderia Cepacia Complex ◽  
Mucus Layer ◽  
Emerging Pathogens ◽  
Alternative Pathways ◽  
Lung Infections

Cystic fibrosis (CF) is an autosomal recessive genetic disorder which leads to the secretion of a viscous mucus layer on the respiratory epithelium that facilitates colonization by various bacterial pathogens. The problem of drug resistance has been reported for all the species able to colonize the lung of CF patients, so alternative treatments are urgently needed. In this context, a valid approach is to investigate new natural and synthetic molecules for their ability to counteract alternative pathways, such as virulence regulating quorum sensing (QS). In this review we describe the pathogens most commonly associated with CF lung infections: Staphylococcus aureus, Pseudomonas aeruginosa, species of the Burkholderia cepacia complex and the emerging pathogens Stenotrophomonas maltophilia, Haemophilus influenzae and non-tuberculous Mycobacteria. For each bacterium, the QS system(s) and the molecules targeting the different components of this pathway are described. The amount of investigations published in the last five years clearly indicate the interest and the expectations on antivirulence therapy as an alternative to classical antibiotics.

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